Super Siblings in Neverland

This article was written by the Pauca family, sharing their daughters’ journey of having a sibling with special needs (PTHS).  It appears in the Spring 2013 Exceptional Child magazine, (pages 16-17 online) a publication of the Piedmont Parent, North Carolina.

Victor Pauca may age, but in many ways, he may never have to grow up. So his parents needed to find a way to explain Victor’s complicated and very rare genetic disorder to his sisters, at a level that they could understand.

By Theresa Pauca

I am mommy to three super children: Sofia, 13; Francesca, 10; and Victor, 7. What makes them super? Their positive attitudes, infinite compassion and acceptance that everyone is different. All three children have learned from each other, and each has been given unique talents and gifts.

After my husband, Paul, and I were blessed with two precocious and gifted girls, we had begun to feel like we had done everything right. In fact, to a degree, we felt we could do nothing wrong. Our life was so great because we had made it that way — we felt almost invincible; nothing could shatter our world. Well, that nothing turned into something so life-changing that we could have never imagined it. We were blessed a third time with a son with special needs.

When Victor was born, it was not apparent that he had disabilities. But as he turned from an infant to a toddler, it was obvious he was not reaching his developmental milestones. Now remember, we were coming out of our fairy-tale world, where the girls did everything early. At first we thought he was just moving along at his own speed, but then it became clear that Victor’s pace was extremely gradual. The bubble, which we had carefully built around our perfect little lives, was just then bursting.

After a long road involving numerous doctors, at 2 and a half, Victor was diagnosed with a rare genetic disorder called Pitt-Hopkins syndrome (PTHS). There are only about 250 cases diagnosed world-wide. It is also so rare that there were no associations in the world for PTHS. So we started an international support group, and later the Pitt Hopkins Research Foundation (pitthopkins.org), with the help of some other amazing PTHS families.

What is Victor like?

He is one of the happiest people I have ever known. According to the National Library of Medicine at the National Institutes of Health, “Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay which range from moderate to severe, breathing problems, recurrent seizures [epilepsy], and distinctive facial features. … Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling, laughter.”

Some of the distinctive facial features are these pronounced Cupid’s bow lips and a wide smile, so children with PTHS are beautiful. Sometimes I like to tell people Victor has “Pitt Handsome syndrome,” just to see their reaction.

What do we tell the girls about their brother?

At the time of Victor’s diagnosis, they were 8 and 5. I am a “glass half full” person and wanted to use a positive message to tell them about Victor, without bringing unnecessary sadness into their young lives.

So I told them that Victor was like Peter Pan. In his mind he would never have to grow up, and we could always enjoy Neverland with him. We could share this special place with Victor forever. We could always enjoy buying him beautiful toys and could play happily with him, forever. I told them he wouldn’t have to do a hard job or even homework.

“Wow,” they said, with smiles on their faces, “Victor’s lucky.”

Is it always easy for our family?

Definitely not! Do we need help from family, friends and our community along the way? Yes! Just this past Christmas, I came to the realization five years after Victor’s diagnosis, that I should stop acting like I could do it all, because I can’t. If someone asks me if they can help, I now say “yes!” Because I know that if they didn’t want to help, they wouldn’t be asking.

What have the super siblings learned?

To be patient, helpful and kind. To accept other people’s differences — all kinds of differences. That we are not perfect and really wouldn’t want to be.

And they can visit Neverland, forever, with Victor.

Theresa Pauca is vice president of the Pitt Hopkins Research Foundation (pitthopkins.org), dedicated to finding a treatment and ultimately a cure for PTHS. She is married to Paul Pauca, who developed the app “Verbal Victor.”  Theresa, Paul and their children live in Winston-Salem. 

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The Quality of Souls

The University of Virginia Magazine

The Quality of Souls

A mother works to find a cure for her son’s syndrome,  Spring 2013

by AUDREY DAVIDOW LAPIDUS (COL ’95)

Calvin didn’t roll over. He didn’t crawl. When all the other babies were babbling and taking wobbly steps, he was just lying there, smiling. Always smiling.

I tried to convince myself that he would catch up. And that one day, as he streaked across the Lawn, we would all laugh about how we worried something was wrong when he was just a baby. I tried to convince myself, but deep down I knew; I had this terrifying feeling that it wasn’t going to turn out that way.

That’s about all I remember of my son’s first year. They say that happens with trauma—you block it out. But I’ll never forget the night the doctor called to tell me what was wrong with my baby boy.

He said Calvin had a mutation in the 18th chromosome, an extremely rare genetic syndrome called Pitt Hopkins. Fewer than 200 cases in the world had been diagnosed—and when the doctor took his genetics boards 20 years ago the syndrome had yet to even be discovered. By this point in our conversation, I was already frantically Googling.

The papers online said my son would not talk. They said he may or may not walk. He would likely have seizures as he got older. And he would be severely impaired, both intellectually and physically. He was only 13 months old and already his future felt grim, if not totally lost.

That was exactly a year ago. On that day, in that darkness, I never would have imagined where we would be now. Old friends stood by us. New friends rallied to support us. And so many friends we’d lost touch with, in particular so many U.Va. alumni, came back into our lives. Their phone calls, emails and meal deliveries buoyed us through that difficult time.

This past year has been an education in the things that matter. All the smiling Calvin does is actually part of his syndrome—children with Pitt Hopkins tend to be very cheerful. I have met many special-needs parents whose children do not have the muscle control to smile or whose sensory disorders leave them so uncomfortable in their own skin they can rarely enjoy their surroundings. My heart aches for them. My son can smile. It used to seem like such a little thing.

In the early days after the diagnosis, I tried to take solace in mantras like “everything happens for a reason.” The truth is I don’t believe some divine order led Cal to me, or me to Cal. But I know that I have two choices—hope or despair—and that the latter gets us nowhere.

Of course, not everything is so clear cut. I worry that I will still be changing his diaper when he is 30. How will that work, I wonder? Then there’s the big question, the one I can’t bring myself to utter out loud—will my son have a meaningful life?

I know that Cal has made my life immensely more meaningful. He is a constant reminder to look not at human deficiencies but at the quality of souls. Perhaps it’s just the desperate hope of a mother trying to make sense of it all, but I like to believe that his brain, unclouded by judgment and ego, knows only light and love.

Our son’s diagnosis has given my family a new purpose: to find a cure for Pitt Hopkins. Because Pitt Hopkins is an extremely rare, recently discovered disease, there was no foundation, no research and no hope of clinical trials at the time of Calvin’s diagnosis. My husband and I decided to change that. In the past year, together with a small group of families, we have raised more than $300,000 for Pitt Hopkins research. We recently made our first grant to David Sweatt, an esteemed neurobiologist at the University of Alabama, Birmingham.

A large part of the grant was for Sweatt to hire the best researcher he could find to assist him. After a nationwide search, Sweatt found Andrew Kennedy (Grad ’11), toiling away in the chemistry laboratory of Timothy Macdonald at U.Va. To me, this felt like kismet—a U.Va. scientist will be the one helping to find a cure for my son.

Of course, finding a cure is my wildest hope—one that I have to keep in check at the back of my mind and tucked deep in my heart. My realistic hope is that there will be a treatment within the next decade that won’t necessarily cure Pitt Hopkins kids but will give them much higher functioning, fuller lives.

Still, that is a long time from now. For today, for now, I try to live in the present, to focus on the blessings I have, rather than what I want. It isn’t always easy, but when I forget, I need only look over at my son, beaming his bright, beautiful smile—reminding all of us to do the same.

Audrey Davidow Lapidus lives in Los Angeles with her husband, Eric; and their children, Sadie, 6, and Calvin, 2. She is president of the Pitt Hopkins Research Foundation.

http://uvamagazine.org/first_person/article/the_quality_of_souls#.UTqPRaX_Q22

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TCF4 Simulation Video

MD Simulation of TCF4 bound to CREB-binding protein video

by Ryan Godwin, Ph.D. student, Department of Physics, Wake Forest University

Sam Cho, Ph.D, Assistant Professor, WFU

Class name: PHY 320/620: Physics of Biological Macromolecules, Fall Semester 2012

View video here:

TCF4 and CREB-binding Protein MD Simulation from Sam Cho on Vimeo.

Final Project: MD Simulation of TCF4 bound to CREB-binding protein 

Project description: Our class performed molecular dynamics (MD) simulations of TCF4 bound to CREB-binding protein on Wake Forest University’s DEAC Supercomputing facilities. Molecular dynamics simulations are like a computational microscope that describes the physical movements of atoms and molecules over a period of time. The forces between each of the atoms and molecules at a given time determine where they will move next by numerically solving Newton’s equations of motion, over and over again until the simulation ends. The result is a series of “snapshots” that can be stitched together into a “movie” like the one seen above.

In previous years, we chose some obscure biomolecular system to perform our simulations. This year, to give the students a more meaningful experience, they performed simulations of TCF4 bound to CREB-binding protein, whose structure was recently solved using a technique called nuclear magnetic resonance by an international team consisting from Queen’s University (Kingston, ON), University of Toronto (Toronto, ON), and Centre National de la Recherche Scientifique (Grenoble, France). This was an ideal biological system to study because it was just the right size for the students to perform scientifically meaningful simulations in a short period of time.

On the last day of class, Theresa and Paúl Pauca shared their story of their son Victor so that the students can know that their simulations had a biological relevance.  This talk was designed to encourage socially relevant learning and disability awareness at the University level.

Student comments about the class:
“I especially enjoyed seeing how our project was useful to good people.”
“I enjoyed the simulations and applying what we learned in the semester to understand the real-world applications of the theory.”

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Grant Recipients, Spring 2013

David Sweatt, PhD 

Evelyn F. McKnight Chair, Dept of Neurobiology; Director, McKnight Brain Institute; University of Alabama at Birmingham

The identification of the dysfunctional TCF4 transcription factor gene as the genetic basis of Pitt-Hopkins Syndrome is a critical step forward in beginning to understand the diagnosis, etiology and molecular biology of PTHS. This project encompasses a set of studies to investigate the cognitive dysfunction associated with PTHS, focusing on mechanistic studies to understand the role of the TCF4 transcription factor in central nervous system function. For this project we are using genetically engineered mice in which the TCF4 gene has been manipulated in order to mimic human PTHS. This particular project is focused on investigating whether there is aberrant regulation of epigenetic molecular mechanisms, and altered transcriptional regulation of genes and small non-coding gene products in the PTHS model mice. For these studies we are particularly interested in learning and memory function as it relates to these molecular biological mechanisms in the CNS. Toward that end we are using next-generation high-throughput DNA sequencing methodologies coupled with epigenomics and bio-informatics approaches.

Stephen J. Haggarty, PhD

Associate Professor of Neurology | Harvard Medical School and Massachusetts General Hospital

The additional funds will be used to further support a post-doctoral research scientist in the Haggarty laboratory who is developing assays with human patient specific, stem-cell derived neuronal to measure TCF4 expression at the mRNA and protein level. Additionally, methods for mapping TCF4 target genes using state-of-the-art techniques for chromatin immunoprecipitation coupled with high-throughput DNA sequencing (ChIP-seq) are being piloted. These studies are anticipated to provide important new insight into how the loss of TCF4 function may lead to changes in pathways important for neuroplasticity.

 

 

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Verbal Victor App

 

To honor Hispanic Heritage Month, NBC Latino is honoring and featuring 20 Hispanic-Americans pioneering change in the country and in the community.

PAUL PAUCA dreams up app to communicate with disabled son

by Sandra Marquez Stathis
5:00 am on 09/18/2012 

Pauca-Innovator

The diagnosis came when little Victor was just 2 1/2 years-old. The North Carolina boy was afflicted with a rare developmental and cognitive condition that causes delays in speech and motor skills called Pitt Hopkins Syndrome, of which there are approximate 180 cases worldwide. Mom and dad, who had noticed something was wrong at one year just as Victor was only starting to sit up, were heartbroken.

“It shattered our world,” remembers Paul Pauca, Victor’s father, a Peruvian-born software engineering professor at Wake Forest University in Winston-Salem. “It got dark and very, very negative.” But his wife, Theresa, a special education teacher, helped Pauca see things more clearly, telling him he had the option of “becoming bitter or better” and that waiting for him on the other side was his baby boy.

It was a message Paul took to heart—and directly into his classroom at the university, where he enlisted his students to help build an iPhone app for kids like Victor, whose condition also caused a delay in his speech. Pauca understood the need: previous devices for children with communication challenges were expensive—ranging in price from $300 to upwards of $8,000—and impersonal.

So his team developed the Verbal Victor app, which now sells for $6.99 in Apple’s iTunes store, and allows the child to hear familiar voices talking to him. The app shows pictures in the form of buttons on mobile devices. When a child touches the picture of, say, a swing, a recorded voice, usually that of their parent or a sibling, says a word or a sentence such as: “I want to play.”
“One of the features I really love is that parents can customize it with their own voices so it doesn’t have a generic, robotic voice,” says Pauca. The recordings can also be made in any language, says Pauca, “which means I can also talk to Victor in Spanish.”

In the four years since Victor’s diagnosis, and since the app first hit the market, Pauca’s life has been completely transformed. On a new professional course as an international advocate for Pitt Hopkins, he is now also a developer of mobile apps for children and adults with disabilities. “Victor brought meaning and purpose to my work,” Pauca says. “My wife and I have started a foundation. And my daughters are becoming leaders in disabilities and trying to change the world in their own way.” In fact, philanthropy runs in Pauca’s family. His father is a retired mechanical engineer who has created 14 libraries for indigenous communities in Peru, and his mother is a social worker.
Victor, who finally learned to walk at age two, now spends his afternoons riding his tricycle and playing on his backyard swing set. ”He’s an extremely curious little guy,” says Pauca. “He’s very lively and social. And he loves having books read to him.”
Meanwhile, the communication tool his Dad named after him has helped prepare Victor to engage with the world around him. “He’s now pointing at himself and then pointing at what he wants,” says Pauca. “Verbal Victor has taught him that if you touch this button, something you want is going to happen. It motivates him to try and go to the next level, to try and say it or to click.”

http://nbclatino.com/2012/09/18/innovator-paul-pauca-creates-communication-app-to-help-his-son/#.UFiV23MvsGc.twitter

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